Andrew Dearlove

The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita

Tom Vulliamy, Anna Marrone, Frederick D. Goldman et al. · Nature · 2001 · 948 citations

Genome Instability, Engineering, Genetic Disorder +7

A Kinesin Heavy Chain (KIF5A) Mutation in Hereditary Spastic Paraplegia (SPG10)

Evan Reid, Mark Kloos, Allison E. Ashley‐Koch et al. · The American Journal of Human Genetics · 2002 · 533 citations · Full text

Biology, Mendelian Disorder, Genetic Disorder +8

Mutation in myosin heavy chain 6 causes atrial septal defect

Yung‐Hao Ching, Tushar K. Ghosh, Steve J. Cross et al. · Nature Genetics · 2005 · 283 citations

Atrial Septal Defect, Cardiac Muscle, Cardiomyopathy +7

Localization of a Gene for Familial Hemophagocytic Lymphohistiocytosis at Chromosome 9q21.3-22 by Homozygosity Mapping

Mina Ohadi, M. R. A. LALLOZ, Pak C. Sham et al. · The American Journal of Human Genetics · 1999 · 216 citations · Full text

Mendelian Disorder, Health Sciences, Cytogenetics +12

MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMDMO)

Ann Kennedy, Masaki Inada, Stephen M. Krane et al. · Journal of Clinical Investigation · 2005 · 115 citations · Full text

Genetics, Genetic Epidemiology, Pathology +17